|
Volumn 22, Issue 5, 2002, Pages 433-436
|
Isolated sulfite oxidase deficiency: Mutation analysis and DNA-based prenatal diagnosis
|
Author keywords
Isolated sulfite oxidase deficiency; Mutation analysis; Sulfite oxidase
|
Indexed keywords
COMPLEMENTARY DNA;
GENOMIC DNA;
SULFITE OXIDASE;
ARTICLE;
CASE REPORT;
CHORION VILLUS SAMPLING;
DEVELOPMENTAL DISORDER;
DNA SEQUENCE;
ENZYME ACTIVITY;
ENZYME DEFICIENCY;
FETUS;
FIBROBLAST CULTURE;
GENE MUTATION;
HUMAN;
NEUROLOGIC DISEASE;
NUCLEAR MAGNETIC RESONANCE IMAGING;
POLYMERASE CHAIN REACTION;
PREGNANCY;
PRENATAL DIAGNOSIS;
PRIORITY JOURNAL;
BRAIN;
BRAIN DISEASES, METABOLIC, INBORN;
CELLS, CULTURED;
CHORIONIC VILLI;
CHORIONIC VILLI SAMPLING;
DNA MUTATIONAL ANALYSIS;
DNA, COMPLEMENTARY;
FEMALE;
FIBROBLASTS;
GENE DELETION;
HUMANS;
INFANT, NEWBORN;
MAGNETIC RESONANCE IMAGING;
MUTATION;
OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS;
POLYMERASE CHAIN REACTION;
PREGNANCY;
|
EID: 0036116835
PISSN: 01973851
EISSN: None
Source Type: Journal
DOI: 10.1002/pd.335 Document Type: Article |
Times cited : (23)
|
References (10)
|